Pereira Helcio Duarte, Soriano Viana José Marcelo, Andrade Andréa Carla Bastos, Fonseca E Silva Fabyano, Paes Geísa Pinheiro
Department of General Biology, Federal University of Viçosa, Viçosa, MG, 36570-900, Brazil.
Department of Animal Science, Federal University of Viçosa, Viçosa, MG, 36570-900, Brazil.
J Appl Genet. 2018 Feb;59(1):1-8. doi: 10.1007/s13353-017-0417-2. Epub 2017 Nov 30.
The objective of this study was to analyze the relevance of relationship information on the identification of low heritability quantitative trait loci (QTLs) from a genome-wide association study (GWAS) and on the genomic prediction of complex traits in human, animal and cross-pollinating populations. The simulation-based data sets included 50 samples of 1000 individuals of seven populations derived from a common population with linkage disequilibrium. The populations had non-inbred and inbred progeny structure (50 to 200) with varying number of members (5 to 20). The individuals were genotyped for 10,000 single nucleotide polymorphisms (SNPs) and phenotyped for a quantitative trait controlled by 10 QTLs and 90 minor genes showing dominance. The SNP density was 0.1 cM and the narrow sense heritability was 25%. The QTL heritabilities ranged from 1.1 to 2.9%. We applied mixed model approaches for both GWAS and genomic prediction using pedigree-based and genomic relationship matrices. For GWAS, the observed false discovery rate was kept below the significance level of 5%, the power of detection for the low heritability QTLs ranged from 14 to 50%, and the average bias between significant SNPs and a QTL ranged from less than 0.01 to 0.23 cM. The QTL detection power was consistently higher using genomic relationship matrix. Regardless of population and training set size, genomic prediction provided higher prediction accuracy of complex trait when compared to pedigree-based prediction. The accuracy of genomic prediction when there is relatedness between individuals in the training set and the reference population is much higher than the value for unrelated individuals.
本研究的目的是分析关系信息在从全基因组关联研究(GWAS)中识别低遗传力数量性状基因座(QTL)以及在人类、动物和异花授粉群体复杂性状的基因组预测方面的相关性。基于模拟的数据集包括来自具有连锁不平衡的共同群体的七个群体中每个群体1000个个体的50个样本。这些群体具有非近交和近交后代结构(50至200),成员数量各不相同(5至20)。对个体进行了10000个单核苷酸多态性(SNP)的基因分型,并对由10个QTL和90个显示显性的微效基因控制的数量性状进行了表型分析。SNP密度为0.1厘摩,狭义遗传力为25%。QTL遗传力范围为1.1%至2.9%。我们使用基于系谱和基因组关系矩阵的混合模型方法进行GWAS和基因组预测。对于GWAS,观察到的错误发现率保持在5%的显著性水平以下,低遗传力QTL的检测功效范围为14%至50%,显著SNP与QTL之间的平均偏差范围为小于0.01至0.23厘摩。使用基因组关系矩阵时,QTL检测功效始终更高。无论群体和训练集大小如何,与基于系谱的预测相比,基因组预测对复杂性状提供了更高的预测准确性。当训练集和参考群体中的个体之间存在亲缘关系时,基因组预测的准确性远高于无亲缘关系个体的值。